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Congenital scoliosis
Congenital scoliosis
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CONGENITAL SCOLIOSIS
C0559260
FBN1
Causal
—
Disgenet
TGF-beta signaling pathway
Cytoskeleton in muscle cells
Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres
Integrin cell surface interactions
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
+5 more
CONGENITAL SCOLIOSIS DUE TO BONY MALFORMATION
C0495617
LTBP3
Unknown
—
Disgenet
Molecules associated with elastic fibres
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
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Related via 2 shared genes including FBN1, LTBP3.
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1 shared gene
FBN1
Related via 1 shared gene including FBN1.
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1 shared gene
FBN1
Related via 1 shared gene including FBN1.
Acromesomelic dysplasia
2 shared genes
FBN1, LTBP3
Related via 2 shared genes including FBN1, LTBP3.
Crst syndrome
1 shared gene
FBN1
Related via 1 shared gene including FBN1.
1
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